A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462515



Internal ID15175894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170265550..170532433hg38UCSC Ensembl
Innerchr5:169692554..169959437hg19UCSC Ensembl
Innerchr5:169625132..169892015hg18UCSC Ensembl
Innerchr5:169625132..169892015hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38266884
hg19266884
hg18266884
hg17266884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538660
SamplesHGDP00706
Known GenesKCNIP1, KCNMB1, LCP2, LOC257358
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462515
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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